Inherited mechanical fragility of the skin and epithelial tissues.
Presents as recurrent erosions, blisters, and scars.
Risk of extracutaneous complications, resulting from recurrent blistering or scarring of tissues.
Risk of infant or premature death among some epidermolysis bullosa subtypes.
High risk of death from metastatic squamous cell carcinoma during adulthood in some epidermolysis bullosa subtypes.
Epidermolysis bullosa (EB) includes >30 inherited conditions characterized by mechanical fragility of skin and epithelial-lined tissues. EB is subclassified by the ultrastructural level within which blisters arise in the skin, clinical phenotype, and genotype. EB results from mutations within genes encoding for any of at least 20 different structural skin proteins. People with the more severe subtypes are at risk of premature death, including death from metastatic squamous cell carcinoma, renal failure, upper airway occlusion, or sepsis.
History and exam
Key diagnostic factors
- positive family history of EB
- mechanical fragility of the skin
- recurrent blisters and erosions
- poorly healing wounds
- onset of cutaneous signs at birth or early infancy
- resolution of blistering within the first 1-2 years of life
- generalized or localized distribution of skin involvement
- combination of milia, scarring, and dystrophic nails
- absence of milia, scarring, and dystrophic nails
- exuberant granulation tissue
- herpetiform blistering
- enamel hypoplasia
- reticulate hyperpigmentation
- muscular dystrophy
- tracheolaryngeal stenosis or stricture
- severe upper airway disease
- onset in mid or late childhood
- inverse (intertriginous), acral, or centripetal distribution of skin involvement
- severe cardiomyopathy
- Family history of EB
1st investigations to order
- immunofluorescence antigenic mapping
- transmission electron microscopy
- DNA mutational analysis
suspected tracheolaryngeal stenosis, stricture, or obstruction
suspected systemic infection
EBS, JEB, DEB, Kindler syndrome
- Epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma)
- Congenital porphyrias
- Cutaneous absence of skin (aplasia cutis)
- Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification
- Log in or subscribe to access all of BMJ Best Practice
Use of this content is subject to our disclaimer